ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826130553
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2768945
ClinVar RCV Id:
RCV003590994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Tyr1568Ser
CA384880323
NM_001177984.2:c.4703A>C